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NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp) AND not provided

Germline classification:
Uncertain significance (2 submissions)
Last evaluated:
Jun 1, 2022
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000591279.8

Allele description [Variation Report for NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp)]

NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp)

Gene:
SMAD3:SMAD family member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
15q22.33
Genomic location:
Preferred name:
NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp)
HGVS:
  • NC_000015.10:g.67164908C>T
  • NG_011990.1:g.104052C>T
  • NM_001145102.2:c.-96C>T
  • NM_001145103.2:c.88C>T
  • NM_005902.4:c.220C>TMANE SELECT
  • NP_001138575.1:p.Arg30Trp
  • NP_005893.1:p.Arg74Trp
  • NC_000015.9:g.67457246C>T
  • NM_005902.3:c.220C>T
Protein change:
R30W
Links:
dbSNP: rs1343295267
NCBI 1000 Genomes Browser:
rs1343295267
Molecular consequence:
  • NM_001145102.2:c.-96C>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001145103.2:c.88C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005902.4:c.220C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000708602Eurofins Ntd Llc (ga)
criteria provided, single submitter

(EGL Classification Definitions 2015)		Uncertain significance
(May 17, 2017) 		germlineclinical testing

Citation Link,

SCV001812607GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jun 1, 2022) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000708602.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

From GeneDx, SCV001812607.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Observed in an individual with TAAD and an individual with features of Loeys-Dietz syndrome type 3 (LDS3) who also harbored an additional cardiogenetic variant in the published literature (Hicks et al., 2018; Richter et al., 2019); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 31096651, 29510914)

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 19, 2024